G20V (p.Gly20Val) variant of SOX2 (Transcription factor SOX-2)
G20V (p.Gly20Val) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 3-181712419-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.55
- MetaLR 0.90
- MetaSVM 0.91
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.155
- Literature evidence available